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EYA2 EYA transcriptional coactivator and phosphatase 2 [ Homo sapiens (human) ]

Gene ID: 2139, updated on 7-Dec-2018

Summary

Official Symbol
EYA2provided by HGNC
Official Full Name
EYA transcriptional coactivator and phosphatase 2provided by HGNC
Primary source
HGNC:HGNC:3520
See related
Ensembl:ENSG00000064655 MIM:601654
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EAB1
Summary
This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may be post-translationally modified and may play a role in eye development. A similar protein in mice can act as a transcriptional activator. Alternative splicing results in multiple transcript variants, but the full-length natures of all of these variants have not yet been determined. [provided by RefSeq, Jul 2009]
Expression
Broad expression in endometrium (RPKM 9.8), prostate (RPKM 9.3) and 17 other tissues See more
Orthologs

Genomic context

See EYA2 in Genome Data Viewer
Location:
20q13.12
Exon count:
16
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 20 NC_000020.11 (46894624..47188844)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (45523263..45817492)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene RNA, 7SK small nuclear pseudogene 33 Neighboring gene ribosomal protein L13 pseudogene 14 Neighboring gene uncharacterized LOC101927355 Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 54 Neighboring gene ribosomal protein S2 pseudogene 54 Neighboring gene microRNA 3616 Neighboring gene zinc finger MYND-type containing 8 Neighboring gene uncharacterized LOC100131496 Neighboring gene uncharacterized LOC101927377

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
NHGRI GWA Catalog
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
NHGRI GWA Catalog

Pathways from BioSystems

  • DNA Double Strand Break Response, organism-specific biosystem (from REACTOME)
    DNA Double Strand Break Response, organism-specific biosystemDNA double strand break (DSB) response involves sensing of DNA DSBs by the MRN complex which triggers ATM activation. ATM phosphorylates a number of proteins involved in DNA damage checkpoint signali...
  • DNA Double-Strand Break Repair, organism-specific biosystem (from REACTOME)
    DNA Double-Strand Break Repair, organism-specific biosystemNumerous types of DNA damage can occur within a cell due to the endogenous production of oxygen free radicals, normal alkylation reactions, or exposure to exogenous radiations and chemicals. Double-s...
  • DNA Repair, organism-specific biosystem (from REACTOME)
    DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
  • Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks, organism-specific biosystem (from REACTOME)
    Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks, organism-specific biosystemActivated ATM phosphorylates a number of proteins involved in the DNA damage checkpoint and DNA repair (Thompson and Schild 2002, Ciccia and Elledge 2010), thereby triggering and coordinating accumul...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC10614

Gene Ontology Provided by GOA

Function Evidence Code Pubs
magnesium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein tyrosine phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein tyrosine phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
DNA repair IEA
Inferred from Electronic Annotation
more info
 
anatomical structure development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extrinsic apoptotic signaling pathway in absence of ligand IEA
Inferred from Electronic Annotation
more info
 
histone dephosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
histone dephosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
mesodermal cell fate specification TAS
Traceable Author Statement
more info
PubMed 
mitochondrial outer membrane permeabilization IEA
Inferred from Electronic Annotation
more info
 
negative regulation of extrinsic apoptotic signaling pathway in absence of ligand IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peptidyl-tyrosine dephosphorylation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of DNA repair IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
striated muscle tissue development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
eyes absent homolog 2
NP_005235.3
NP_742108.2
XP_005260384.1
XP_016883210.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011673.2 RefSeqGene

    Range
    4755..298975
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005244.5NP_005235.3  eyes absent homolog 2 isoform a

    See identical proteins and their annotated locations for NP_005235.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1), also known as EYA2I, represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AL022342, AL121776, AL354766, AL359434
    Consensus CDS
    CCDS13403.1
    UniProtKB/Swiss-Prot
    O00167
    Related
    ENSP00000333640.5, ENST00000327619.9
    Conserved Domains (2) summary
    TIGR01658
    Location:267538
    EYA-cons_domain; eyes absent protein conserved domain
    pfam00702
    Location:269514
    Hydrolase; haloacid dehalogenase-like hydrolase
  2. NM_172110.3NP_742108.2  eyes absent homolog 2 isoform c

    See identical proteins and their annotated locations for NP_742108.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an alternate in-frame segment in the 3' coding region, compared to variant 1, resulting in an isoform (c) that is shorter than isoform a.
    Source sequence(s)
    AL354766, BC013882
    Consensus CDS
    CCDS54471.1
    UniProtKB/Swiss-Prot
    O00167
    Related
    ENSP00000349986.3, ENST00000357410.7
    Conserved Domains (1) summary
    TIGR01658
    Location:267459
    EYA-cons_domain; eyes absent protein conserved domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p12 Primary Assembly

    Range
    46894624..47188844
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017027721.2XP_016883210.1  eyes absent homolog 2 isoform X1

    UniProtKB/TrEMBL
    E7ETN2
    Related
    ENSP00000483392.1, ENST00000611592.4
  2. XM_005260327.2XP_005260384.1  eyes absent homolog 2 isoform X2

    Conserved Domains (2) summary
    TIGR01658
    Location:185456
    EYA-cons_domain; eyes absent protein conserved domain
    pfam00702
    Location:187432
    Hydrolase; haloacid dehalogenase-like hydrolase

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_172111.1: Suppressed sequence

    Description
    NM_172111.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
  2. NM_172112.1: Suppressed sequence

    Description
    NM_172112.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
  3. NM_172113.1: Suppressed sequence

    Description
    NM_172113.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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